G5R (p.Gly5Arg) variant of CYP2E1 (Cytochrome P450 2E1)
G5R (p.Gly5Arg) in CYP2E1 (Cytochrome P450 2E1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- TOPMed rs1401576094
- gnomAD rs1401576094
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.36
- MetaLR 0.44
- MetaSVM -0.53
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available